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B-Cell Lymphomas with Plasmablastic Morphology and/or EBV Expression
Published in Wojciech Gorczyca, Atlas of Differential Diagnosis in Neoplastic Hematopathology, 2014
ALK+ DLBCLs occur in patients from all age groups and show male predominance. Most patients present with advanced disease and peripheral (less often mediastinal or retroperitoneal) adenopathy, but other organs may be involved (soft tissue, bone, brain, nasal cavity, etc.). The clinical course is aggressive despite polychemotherapy [17]. Majority of cases are associated with t(2;17)(p23;q23), which results in fusion between CLTC (clathrin gene) on 17q23 and ALK on 2p23 [16]. Only rare cases of ALK+ DLBCL with ALK–NPM fusion due to t(2;5) have been reported [3,19]. Stachurski et al. [20] described ALK+ DLBCL with complex karyotype and cryptic 3′ ALK gene insertion to chromosome 4q22–24. Rare partners of ALK gene include also SQSTM1 and SEC31A. Translocations between ALK and Xq21 and 12q24 have also been reported.
Immunoprofiles of colorectal cancer from Lynch syndrome
Published in OncoImmunology, 2019
Joanna Walkowska, Thomas Kallemose, Göran Jönsson, Mats Jönsson, Ove Andersen, Mads Hald Andersen, Inge Marie Svane, Anne Langkilde, Mef Nilbert, Christina Therkildsen
We further investigated the association between immune evasion mechanisms, i.e. loss of B2M and up-regulation of PD-L1, and the 1419 immune-related gene expressions. B2M loss were associated with 58 differentially expressed genes including upregulation of genes involved in apoptosis (CASP3 and BNIP3L) and natural killer cell-mediated cytotoxicity (GZNA, GNZH, LCK, and KIR2DL1) and down-regulation of antigen presentation, folding, assembling and loading of MHC class I receptors (HLA-F, UBE2D2, SEC31A and ITGB5) (Supplementary table 2). These data support the immunohistochemical B2M loss observed in Lynch syndrome tumors and indicate involvement of natural killer cell-mediated apoptosis in this subset. SAM analyses identified 85 significantly differentially expressed genes with 64 genes linked to PD-L1 up-regulation including apoptosis (FAS, CASP3, BIRC3, PARP1) and T cell receptor signaling (CD3D, CD247, MALT1). These data support the association between CD8 and PD-L1 up-regulation, but also indicate that T cell-mediated apoptosis is present to some extend in this subset (Supplementary table 3).
Microsatellite instability and oncological outcomes in Thai patients with endometrial cancer
Published in Journal of Obstetrics and Gynaecology, 2022
Thiti Atjimakul, Panote Wattanapaisal, Supaporn Suwiwat, Worrawit Wanichsuwan, Jitti Hanprasertpong
Experienced pathologists conducted the pathological examinations based on the WHO Classification of Tumours of Female Reproductive Organs (4th edition, 2014). Endometrial tissue samples from 110 patients were investigated. Paraffin tissue blocks were prepared for patients who agreed to participate in this study. Tumour area of 50–100 mm2 in formalin-fixed paraffin-embedded blocks was macro-dissected first and then resected into 2–4 sections of 5 µm thickness, followed by DNA extraction. Analysis was done for a section with at least 20% tumour cell. MSI analysis was conducted with Idylla MSI assay (Biocartis; Biogenic Co., Ltd., Bangkok, Thailand) using seven biomarkers, namely ACVR2A, BTBD7, DIDO1, MRE11, RYR3, SEC31A and SULF2 (Zhao et al. 2014; Samaison et al. 2019). Tissue sections were laid between two nuclease-free water-soaked Whatman filter papers (GE Healthcare Life Science, Chicago, IL, Whatman, Cat#1001-6508). The samples were then placed in an Idylla MSI cartridge and further introduced into an automated Idylla MSI assay. Each sample was analysed for approximately 150 min. Inside the instrument, DNA was extracted, followed by PCR, and the specific target was detected by fluorescently labelled molecular beacon with high-resolution melting curve analysis; final analysis showed the MSI score of each biomarker. MSI scores of >0.5 and <0.5 indicated the presence and absence of any mutation, respectively. The MSI results were evaluated, and the samples were divided into MSI-H or MSI-S categories. Tumours with instability in at least two of the seven MSI markers were designated as MSI-H, whereas MSI-S tumours were classified with instability in one or zero marker, as previously reported (Zhao et al. 2014). Subsequently, MSI in categories MSI-H and MSI-S was compared in terms of characteristics, as mentioned in the case record form.